On October 30th, 2018, Boston Children’s will be marking the 50th anniversary of the founding of its Intellectual and Developmental Disabilities Research Center.
As the African-American civil rights movement was flowering in the 1960s, a less visible civil rights movement was dawning. And so was a revolution in science that may outshine that spurred by the U.S. space program.
It was a time when children with what is now called intellectual disability (ID) or developmental disability (DD) were “excused” from school and routinely abandoned to institutions. “Schools” like the Fernald Center in Massachusetts and the Willowbrook State School in New York housed thousands of residents.
Some participated in research, but not the kind you might think. At Willowbrook, children were deliberately infected with hepatitis to test a new treatment. At Fernald, they were deliberately exposed to radiation in an experiment approved by the Atomic Energy Commission. Institutional review boards did not then exist.
In 1962, President John F. Kennedy convened a panel to propose a “National Action to Combat Mental Retardation,” at the strong urging of his sister Eunice Kennedy Shriver. Three weeks before JFK’s assassination, the first legislation passed. It changed the course of history.
An explosion of neuroscience research
The Mental Retardation Facilities and Community Health Centers Construction Act of 1963 was the beginning of community-based care, special education programs and the closure of state institutions. The Act also provided grants to establish 12 research centers, today known as Intellectual and Developmental Disabilities Research Centers (IDDRCs). They now number 14.
IDDRC funding came with few strings attached. It spurred decades of neuroscience research that underpins today’s understanding of the nervous system, developmental neurobiology and neurogenetics.
“Many things we know about how the brain works had their origins in the IDDRCs,” says Scott Pomeroy, MD, PhD, neurologist-in-chief at Boston Children’s Hospital and current director of the Harvard IDDRC based at the hospital, among the first to be established and funded in 1968. “It’s been an incubator of people who went on to shape the field.”
One of the early conditions studied was brain injury due to hypoxia/ischemia, or oxygen deprivation, around the time of birth — the same condition thought to have caused Rosemary Kennedy’s mild intellectual disability (for which she underwent a lobotomy in 1941).
Also studied early on was phenylketonuria (PKU), a metabolic disorder that led to brain damage and intellectual disability. Newborn screening for PKU began in the early 1960s, and the Boston Children’s IDDRC supported research on the effects of maternal PKU on babies and the role of a special diet in curbing PKU’s effects.
“When the field of mental retardation was getting its feet down, getting established, issues about understanding causes and etiology were very prominent,” recounted the late Allen Crocker, MD, who ran Boston Children’s Down Syndrome program for many years, in a 2005 interview. “We were inevitably in the middle of it.”
Your tax dollars at work
The research quickly expanded to explore mechanisms of brain development and to break new ground in genetics. Such was the scope that it spurred construction of the 14-story Enders Pediatric Research Laboratories in 1970 — at the time, the world’s largest research building devoted to pediatric disorders.
Today, the Harvard IDDRC supports more than 100 projects. It has grown to encompass 72 investigators from 15 departments and divisions based in five Harvard-affiliated institutions. The list of their achievements is long, so this is truly just a snapshot:
- Discoveries about the development and evolution of the brain, including neuronal migration, critical periods, development of the sensory system and how early experiences influence brain development
- Animal models of neurologic disorders and brain malformations
- Research linking lead exposure with cognitive impairment, helping to spur lead removal from gasoline and paint
- Discovery of the neurogenetic underpinnings of intellectual disability – and advances in understanding genetic mechanisms such as methylation, genomic imprinting, microRNAs and mosaic distribution of mutations
- Early work in chromosomal manipulation, genetic engineering and gene therapy
- Cloning of the gene for Duchenne/Becker muscular dystrophy
- Studies of infants with hydrocephalus, providing much of the current knowledge of cerebrospinal fluid and its production and absorption
- The effects of congenital heart disease and cancer treatment on brain development
- Early studies of neural progenitors and stem cells and, later, patient-derived neurons as models of brain and nervous-system disorders
- How nervous system cancers arise from neural progenitors and stem cells
- An understanding of axons and the role of glial cells in shaping the brain’s synaptic connections.
In short, the 1963 legislation not only marked the beginning of a new civil rights movement, but also launched modern neuroscience and continues to support it. Boston Children’s still receives about $1 million annually from the Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD). The grants help pay for infrastructure and core facilities, enabling the hospital to bring in $50 million per year in additional grants, Pomeroy says.
The future of ID/DD
Have the IDDRCs’ scientific discoveries made things better people with ID/DD? In some cases, definitely yes, especially in the arena of prevention. Newborn screening for metabolic disorders like PKU and congenital hypothyroidism has enabled children to be treated and enjoy normal lives. A vaccine for Haemophilus influenzae type B has curbed brain-damaging meningitis in babies. Lead exposure has greatly decreased — in most localities. Cooling treatments can now minimize the effects of hypoxia/ischemia at birth. Life-saving therapy is now available for spinal muscular atrophy.
The 1963 legislation was about bringing respect and rights to people with disabilities. We’re proud to be part of the science that came from that.
In recent years, we’ve also seen new clinical trials of treatments for genetic syndromes causing ID and autism, such as Fragile X and tuberous sclerosis. They have had some hopeful early results in improving cognition and behavior.
A long road still lies ahead. But let’s remember than when the IDDRCs came into being, institutions for “idiotic children,” “morons” and “the feebleminded” still existed — rife with abuse and neglect. Eugenics — which sought to eliminate people with ID/DD through euthanasia and forced sterilization — was still a recent memory.
“The 1963 legislation was about bringing respect and rights to people with disabilities,” says Pomeroy. “We’re proud to be part of the science that came from that.”